UniProtKB - Q8WVS4 (DC2I1_HUMAN)
Cytoplasmic dynein 2 intermediate chain 1
DYNC2I1
Functioni
GO - Molecular functioni
- dynein heavy chain binding Source: GO_Central
- dynein light chain binding Source: GO_Central
GO - Biological processi
- cilium assembly Source: GO_Central
- embryonic skeletal system morphogenesis Source: GO_Central
- intraciliary retrograde transport Source: UniProtKB
- intraciliary transport Source: GO_Central
- intraciliary transport involved in cilium assembly Source: Reactome
- microtubule-based movement Source: GO_Central
Keywordsi
Biological process | Cilium biogenesis/degradation |
Enzyme and pathway databases
PathwayCommonsi | Q8WVS4 |
Reactomei | R-HSA-5620924, Intraflagellar transport |
SignaLinki | Q8WVS4 |
Names & Taxonomyi
Protein namesi | Recommended name: Cytoplasmic dynein 2 intermediate chain 1Alternative name(s): Dynein 2 intermediate chain 1 WD repeat-containing protein 60 |
Gene namesi | |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000126870.15 |
HGNCi | HGNC:21862, DYNC2I1 |
MIMi | 615462, gene |
neXtProti | NX_Q8WVS4 |
Subcellular locationi
Cytoskeleton
- centrosome 1 Publication
Other locations
- cilium 1 Publication
Note: Located at the base of the primary cilium in serum-starved fibroblasts.1 Publication
Cytoskeleton
- centrosome Source: UniProtKB
- cytoplasmic dynein complex Source: UniProtKB
- pericentriolar material Source: GO_Central
Extracellular region or secreted
- extracellular space Source: UniProtKB
Other locations
- ciliary base Source: GO_Central
- ciliary plasm Source: GO_Central
- ciliary tip Source: Reactome
- cilium Source: Reactome
Keywords - Cellular componenti
Cell projection, Cilium, Cytoplasm, CytoskeletonPathology & Biotechi
Involvement in diseasei
Short-rib thoracic dysplasia 8 with or without polydactyly (SRTD8)3 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_083839 | 631 – 1066 | Missing in SRTD8; Reduces interaction with IFT proteins. 2 PublicationsAdd BLAST | 436 | |
Natural variantiVAR_079178 | 642 – 1066 | Missing in SRTD8. 1 PublicationAdd BLAST | 425 | |
Natural variantiVAR_070197 | 749 | T → M in SRTD8; does not affect interaction with DYNC2I2. 2 PublicationsCorresponds to variant dbSNP:rs587777065EnsemblClinVar. | 1 |
Keywords - Diseasei
Ciliopathy, Disease mutationOrganism-specific databases
DisGeNETi | 55112 |
MalaCardsi | DYNC2I1 |
MIMi | 615503, phenotype |
OpenTargetsi | ENSG00000126870 |
Orphaneti | 474, Jeune syndrome 93271, Short rib-polydactyly syndrome, Verma-Naumoff type |
PharmGKBi | PA142670594 |
Miscellaneous databases
Pharosi | Q8WVS4, Tbio |
Polymorphism and mutation databases
BioMutai | WDR60 |
DMDMi | 296453073 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000242142 | 1 – 1066 | Cytoplasmic dynein 2 intermediate chain 1Add BLAST | 1066 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 30 | PhosphoserineCombined sources | 1 | |
Modified residuei | 247 | PhosphoserineCombined sources | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | Q8WVS4 |
jPOSTi | Q8WVS4 |
MassIVEi | Q8WVS4 |
MaxQBi | Q8WVS4 |
PaxDbi | Q8WVS4 |
PeptideAtlasi | Q8WVS4 |
PRIDEi | Q8WVS4 |
ProteomicsDBi | 74818 |
PTM databases
iPTMneti | Q8WVS4 |
PhosphoSitePlusi | Q8WVS4 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000126870, Expressed in sural nerve and 219 other tissues |
ExpressionAtlasi | Q8WVS4, baseline and differential |
Genevisiblei | Q8WVS4, HS |
Organism-specific databases
HPAi | ENSG00000126870, Low tissue specificity |
Interactioni
Subunit structurei
Intermediate chain of the cytoplasmic dynein complex 2, a multisubunit complex, composed at least of eleven different proteins (PubMed:31451806, PubMed:25205765). The cytoplasmic dynein 2 complex consists of two catalytic heavy chains (HCs) and a number of non-catalytic subunits presented by intermediate chains (ICs), light intermediate chains (LICs) and light chains (LCs). Among them, a heavy chain (DYNC2H1), two intermediate chains (DYNC2I2 and DYNC2I1), a light intermediate chain (DYNC2LI1), and a light chain (DYNLT2B) are unique to the cytoplasmic dynein complex 2, but a subset of the light chains are also shared by dynein-1 and dynein-2 complexes (PubMed:25205765, PubMed:31451806).
Interacts with DYNC2I2; their C-terminal domains each bind a copy of the heavy chain, and their extended N-terminal regions are held together by an array of light chain dimers (PubMed:29742051, PubMed:31451806, PubMed:30320547).
Interacts with DYNLT2B (PubMed:26044572).
Interacts (via the N-terminal half) with DYNLT2B-DYNLT1 dimer or with DYNLT2B-DYNLT3 dimer; this interaction is crucial for retrograde trafficking of ciliary proteins (PubMed:29742051).
5 PublicationsBinary interactionsi
Q8WVS4
With | #Exp. | IntAct |
---|---|---|
NUDC [Q9Y266] | 3 | EBI-2556085,EBI-357298 |
GO - Molecular functioni
- dynein heavy chain binding Source: GO_Central
- dynein light chain binding Source: GO_Central
Protein-protein interaction databases
BioGRIDi | 120422, 28 interactors |
CORUMi | Q8WVS4 |
IntActi | Q8WVS4, 21 interactors |
MINTi | Q8WVS4 |
STRINGi | 9606.ENSP00000384290 |
Miscellaneous databases
RNActi | Q8WVS4, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Repeati | 694 – 734 | WD 1Sequence analysisAdd BLAST | 41 | |
Repeati | 775 – 821 | WD 2Sequence analysisAdd BLAST | 47 | |
Repeati | 907 – 947 | WD 3Sequence analysisAdd BLAST | 41 | |
Repeati | 952 – 992 | WD 4Sequence analysisAdd BLAST | 41 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 473 – 552 | Binding to the DYNLT2B-DYNLT1/DYNLT3 dimer1 PublicationAdd BLAST | 80 |
Sequence similaritiesi
Keywords - Domaini
Repeat, WD repeatPhylogenomic databases
eggNOGi | KOG1587, Eukaryota |
GeneTreei | ENSGT00390000013743 |
HOGENOMi | CLU_010610_0_0_1 |
InParanoidi | Q8WVS4 |
OMAi | VLCCTRS |
OrthoDBi | 1158787at2759 |
PhylomeDBi | Q8WVS4 |
TreeFami | TF329081 |
Family and domain databases
Gene3Di | 2.130.10.10, 2 hits |
InterProi | View protein in InterPro IPR015943, WD40/YVTN_repeat-like_dom_sf IPR001680, WD40_repeat IPR036322, WD40_repeat_dom_sf IPR042505, WDR60 |
PANTHERi | PTHR16022, PTHR16022, 1 hit |
SMARTi | View protein in SMART SM00320, WD40, 3 hits |
SUPFAMi | SSF50978, SSF50978, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
This entry has 1 described isoform and 3 potential isoforms that are computationally mapped.Show allAlign All
10 20 30 40 50
MEPGKRRTKD DTWKADDLRK HLWAIQSGGS KEERKHREKK LRKESEMDLP
60 70 80 90 100
EHKEPRCRDP DQDARSRDRV AEVHTAKESP RGERDRDRQR ERRRDAKDRE
110 120 130 140 150
KEKLKEKHRE AEKSHSRGKD REKEKDRRAR KEELRQTVAH HNLLGQETRD
160 170 180 190 200
RQLLERAERK GRSVSKVRSE EKDEDSERGD EDRERRYRER KLQYGDSKDN
210 220 230 240 250
PLKYWLYKEE GERRHRKPRE PDRDNKHREK SSTREKREKY SKEKSNSFSD
260 270 280 290 300
KGEERHKEKR HKEGFHFDDE RHQSNVDRKE KSAKDEPRKR ESQNGEHRNR
310 320 330 340 350
GASSKRDGTS SQHAENLVRN HGKDKDSRRK HGHEEGSSVW WKLDQRPGGE
360 370 380 390 400
ETVEIEKEET DLENARADAY TASCEDDFED YEDDFEVCDG DDDESSNEPE
410 420 430 440 450
SREKLEELPL AQKKEIQEIQ RAINAENERI GELSLKLFQK RGRTEFEKEP
460 470 480 490 500
RTDTNSSPSR ASVCGIFVDF ASASHRQKSR TQALKQKMRS TKLLRLIDLD
510 520 530 540 550
FSFTFSLLDL PPVNEYDMYI RNFGKKNTKQ AYVQCNEDNV ERDIQTEEIE
560 570 580 590 600
TREVWTQHPG ESTVVSGGSE QRDTSDAVVM PKIDTPRLCS FLRAACQVMA
610 620 630 640 650
VLLEEDRLAA EPSWNLRAQD RALYFSDSSS QLNTSLPFLQ NRKVSSLHTS
660 670 680 690 700
RVQRQMVVSV HDLPEKSFVP LLDSKYVLCV WDIWQPSGPQ KVLICESQVT
710 720 730 740 750
CCCLSPLKAF LLFAGTAHGS VVVWDLREDS RLHYSVTLSD GFWTFRTATF
760 770 780 790 800
STDGILTSVN HRSPLQAVEP ISTSVHKKQS FVLSPFSTQE EMSGLSFHIA
810 820 830 840 850
SLDESGVLNV WVVVELPKAD IAGSISDLGL MPGGRVKLVH SALIQLGDSL
860 870 880 890 900
SHKGNEFWGT TQTLNVKFLP SDPNHFIIGT DMGLISHGTR QDLRVAPKLF
910 920 930 940 950
KPQQHGIRPV KVNVIDFSPF GEPIFLAGCS DGSIRLHQLS SAFPLLQWDS
960 970 980 990 1000
STDSHAVTGL QWSPTRPAVF LVQDDTSNIY IWDLLQSDLG PVAKQQVSPN
1010 1020 1030 1040 1050
RLVAMAAVGE PEKAGGSFLA LVLARASGSI DIQHLKRRWA APEVDECNRL
1060
RLLLQEALWP EGKLHK
Computationally mapped potential isoform sequencesi
There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketH7C022 | H7C022_HUMAN | Cytoplasmic dynein 2 intermediate c... | DYNC2I1 | 522 | Annotation score: | ||
H7BYQ2 | H7BYQ2_HUMAN | Cytoplasmic dynein 2 intermediate c... | DYNC2I1 | 96 | Annotation score: | ||
H7C1E8 | H7C1E8_HUMAN | Cytoplasmic dynein 2 intermediate c... | DYNC2I1 | 196 | Annotation score: |
Sequence cautioni
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 225 | N → K in AAH14491 (PubMed:15489334).Curated | 1 | |
Sequence conflicti | 292 | S → F in AAH14491 (PubMed:15489334).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_026841 | 91 | E → G. Corresponds to variant dbSNP:rs17837851Ensembl. | 1 | |
Natural variantiVAR_026842 | 273 | Q → R. Corresponds to variant dbSNP:rs2788478EnsemblClinVar. | 1 | |
Natural variantiVAR_083839 | 631 – 1066 | Missing in SRTD8; Reduces interaction with IFT proteins. 2 PublicationsAdd BLAST | 436 | |
Natural variantiVAR_079178 | 642 – 1066 | Missing in SRTD8. 1 PublicationAdd BLAST | 425 | |
Natural variantiVAR_070197 | 749 | T → M in SRTD8; does not affect interaction with DYNC2I2. 2 PublicationsCorresponds to variant dbSNP:rs587777065EnsemblClinVar. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AC004863 Genomic DNA No translation available. AC124833 Genomic DNA No translation available. BC014491 mRNA Translation: AAH14491.2 AK001162 mRNA Translation: BAA91528.1 Different initiation. |
CCDSi | CCDS47757.1 |
RefSeqi | NP_060521.4, NM_018051.4 |
Genome annotation databases
Ensembli | ENST00000407559; ENSP00000384290; ENSG00000126870 |
GeneIDi | 55112 |
KEGGi | hsa:55112 |
UCSCi | uc003woe.5, human |
Keywords - Coding sequence diversityi
PolymorphismSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AC004863 Genomic DNA No translation available. AC124833 Genomic DNA No translation available. BC014491 mRNA Translation: AAH14491.2 AK001162 mRNA Translation: BAA91528.1 Different initiation. |
CCDSi | CCDS47757.1 |
RefSeqi | NP_060521.4, NM_018051.4 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
6RLB | electron microscopy | 4.50 | C | 1-1066 | [»] | |
6SC2 | electron microscopy | 3.90 | C | 1-1066 | [»] | |
SMRi | Q8WVS4 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 120422, 28 interactors |
CORUMi | Q8WVS4 |
IntActi | Q8WVS4, 21 interactors |
MINTi | Q8WVS4 |
STRINGi | 9606.ENSP00000384290 |
PTM databases
iPTMneti | Q8WVS4 |
PhosphoSitePlusi | Q8WVS4 |
Polymorphism and mutation databases
BioMutai | WDR60 |
DMDMi | 296453073 |
Proteomic databases
EPDi | Q8WVS4 |
jPOSTi | Q8WVS4 |
MassIVEi | Q8WVS4 |
MaxQBi | Q8WVS4 |
PaxDbi | Q8WVS4 |
PeptideAtlasi | Q8WVS4 |
PRIDEi | Q8WVS4 |
ProteomicsDBi | 74818 |
Protocols and materials databases
Antibodypediai | 10739, 39 antibodies |
DNASUi | 55112 |
Genome annotation databases
Ensembli | ENST00000407559; ENSP00000384290; ENSG00000126870 |
GeneIDi | 55112 |
KEGGi | hsa:55112 |
UCSCi | uc003woe.5, human |
Organism-specific databases
CTDi | 55112 |
DisGeNETi | 55112 |
EuPathDBi | HostDB:ENSG00000126870.15 |
GeneCardsi | DYNC2I1 |
HGNCi | HGNC:21862, DYNC2I1 |
HPAi | ENSG00000126870, Low tissue specificity |
MalaCardsi | DYNC2I1 |
MIMi | 615462, gene 615503, phenotype |
neXtProti | NX_Q8WVS4 |
OpenTargetsi | ENSG00000126870 |
Orphaneti | 474, Jeune syndrome 93271, Short rib-polydactyly syndrome, Verma-Naumoff type |
PharmGKBi | PA142670594 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1587, Eukaryota |
GeneTreei | ENSGT00390000013743 |
HOGENOMi | CLU_010610_0_0_1 |
InParanoidi | Q8WVS4 |
OMAi | VLCCTRS |
OrthoDBi | 1158787at2759 |
PhylomeDBi | Q8WVS4 |
TreeFami | TF329081 |
Enzyme and pathway databases
PathwayCommonsi | Q8WVS4 |
Reactomei | R-HSA-5620924, Intraflagellar transport |
SignaLinki | Q8WVS4 |
Miscellaneous databases
BioGRID-ORCSi | 55112, 1 hit in 844 CRISPR screens |
ChiTaRSi | WDR60, human |
GenomeRNAii | 55112 |
Pharosi | Q8WVS4, Tbio |
PROi | PR:Q8WVS4 |
RNActi | Q8WVS4, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000126870, Expressed in sural nerve and 219 other tissues |
ExpressionAtlasi | Q8WVS4, baseline and differential |
Genevisiblei | Q8WVS4, HS |
Family and domain databases
Gene3Di | 2.130.10.10, 2 hits |
InterProi | View protein in InterPro IPR015943, WD40/YVTN_repeat-like_dom_sf IPR001680, WD40_repeat IPR036322, WD40_repeat_dom_sf IPR042505, WDR60 |
PANTHERi | PTHR16022, PTHR16022, 1 hit |
SMARTi | View protein in SMART SM00320, WD40, 3 hits |
SUPFAMi | SSF50978, SSF50978, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | DC2I1_HUMAN | |
Accessioni | Q8WVS4Primary (citable) accession number: Q8WVS4 Secondary accession number(s): Q9NW58 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | June 27, 2006 |
Last sequence update: | May 18, 2010 | |
Last modified: | December 2, 2020 | |
This is version 155 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human chromosome 7
Human chromosome 7: entries, gene names and cross-references to MIM - Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations